Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

doi:10.1002/mgg3.355

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Molecular genetics & genomic medicine - 1 Mar 2018

Palmer Elizabeth E, Schofield Deborah, Shrestha Rupendra, Kandula Tejaswi, Macintosh Rebecca, Lawson John A, Andrews Ian, Sampaio Hugo, Johnson Alexandra M, Farrar Michelle A, Cardamone Michael, Mowat David, Elakis George, Lo William, Zhu Ying, Ying Kevin, Morris Paula, Tao Jiang, Dias Kerith-Rae, Buckley Michael, Dinger Marcel E, Cowley Mark J, Roscioli Tony, Kirk Edwin P, Bye Ann, Sachdev Rani K

Abstract excerpt

BACKGROUND: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways. METHODS: We conducted a retrospective...

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PMID: 29314763
DOI: 10.1002/mgg3.355
PMCID: PMC5902395

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